메뉴 건너뛰기




Volumn 30, Issue 4, 2010, Pages 387-394

Clinical evaluation of mendelian hypertensive and hypotensive disorders

Author keywords

Genetics; Hypertension; Sodium transport; Tubular disorders

Indexed keywords

ALDOSTERONE; ALDOSTERONE ANTAGONIST; AMILORIDE; CALCIUM; CALCIUM CHANNEL BLOCKING AGENT; CORTICOSTEROID; CORTICOTROPIN; DEXAMETHASONE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; EPITHELIAL SODIUM CHANNEL; GLYCYRRHIZIC ACID; HYDROCHLOROTHIAZIDE; HYDROCORTISONE; MINERALOCORTICOID RECEPTOR; NONSTEROID ANTIINFLAMMATORY AGENT; POTASSIUM; POTASSIUM CHANNEL; POTASSIUM CHLORIDE; SODIUM; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHLORIDE COTRANSPORTER; SODIUM POTASSIUM CHLORIDE COTRANSPORTER; SPIRONOLACTONE; THIAZIDE DIURETIC AGENT;

EID: 77956161522     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semnephrol.2010.06.005     Document Type: Article
Times cited : (3)

References (27)
  • 1
    • 0026580019 scopus 로고
    • A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
    • Lifton R.P., Dluhy R.G., Powers M., Rich G.M., Cook S., Ulick S., et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992, 355:262-265.
    • (1992) Nature , vol.355 , pp. 262-265
    • Lifton, R.P.1    Dluhy, R.G.2    Powers, M.3    Rich, G.M.4    Cook, S.5    Ulick, S.6
  • 3
    • 0035012216 scopus 로고    scopus 로고
    • Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood
    • Dluhy R.G., Anderson B., Harlin B., Ingelfinger J., Lifton R. Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr 2001, 138:715-720.
    • (2001) J Pediatr , vol.138 , pp. 715-720
    • Dluhy, R.G.1    Anderson, B.2    Harlin, B.3    Ingelfinger, J.4    Lifton, R.5
  • 4
    • 0030722585 scopus 로고    scopus 로고
    • Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism
    • Litchfield W.R., New M.I., Coolidge C., Lifton R.P., Dluhy R.G. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1997, 82:3570-3573.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3570-3573
    • Litchfield, W.R.1    New, M.I.2    Coolidge, C.3    Lifton, R.P.4    Dluhy, R.G.5
  • 6
    • 0028154726 scopus 로고
    • Brief report: Liddle's syndrome revisited - 2014;a disorder of sodium reabsorption in the distal tubule
    • Botero-Velez M., Curtis J.J., Warnock D.G. Brief report: Liddle's syndrome revisited - a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994, 330:178-181.
    • (1994) N Engl J Med , vol.330 , pp. 178-181
    • Botero-Velez, M.1    Curtis, J.J.2    Warnock, D.G.3
  • 7
    • 0029160972 scopus 로고
    • Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase
    • Mune T., Rogerson F.M., Nikkila H., Agarwal A.K., White P.C. Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet 1995, 10:394-399.
    • (1995) Nat Genet , vol.10 , pp. 394-399
    • Mune, T.1    Rogerson, F.M.2    Nikkila, H.3    Agarwal, A.K.4    White, P.C.5
  • 9
    • 0034617130 scopus 로고    scopus 로고
    • Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
    • Geller D.S., Farhi A., Pinkerton N., Fradley M., Moritz M., Spitzer A., et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000, 289:119-123.
    • (2000) Science , vol.289 , pp. 119-123
    • Geller, D.S.1    Farhi, A.2    Pinkerton, N.3    Fradley, M.4    Moritz, M.5    Spitzer, A.6
  • 10
    • 0036328423 scopus 로고    scopus 로고
    • Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density
    • Mayan H., Vered I., Mouallem M., Tzadok-Witkon M., Pauzner R., Farfel Z. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab 2002, 87:3248-3254.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3248-3254
    • Mayan, H.1    Vered, I.2    Mouallem, M.3    Tzadok-Witkon, M.4    Pauzner, R.5    Farfel, Z.6
  • 11
    • 0026095167 scopus 로고
    • Pseudohypoaldosteronism: case report and discussion of the syndrome
    • Throckmorton D.C., Bia M.J. Pseudohypoaldosteronism: case report and discussion of the syndrome. Yale J Biol Med 1991, 64:247-254.
    • (1991) Yale J Biol Med , vol.64 , pp. 247-254
    • Throckmorton, D.C.1    Bia, M.J.2
  • 13
    • 0025789561 scopus 로고
    • Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
    • Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 1991, 73:936-944.
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 936-944
    • Hanukoglu, A.1
  • 14
    • 0033565228 scopus 로고    scopus 로고
    • Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
    • Kerem E., Bistritzer T., Hanukoglu A., Hofmann T., Zhou Z., Bennett W., et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999, 341:156-162.
    • (1999) N Engl J Med , vol.341 , pp. 156-162
    • Kerem, E.1    Bistritzer, T.2    Hanukoglu, A.3    Hofmann, T.4    Zhou, Z.5    Bennett, W.6
  • 15
    • 0031861245 scopus 로고    scopus 로고
    • Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
    • Geller D.S., Rodriguez-Soriano J., Vallo Boado A., Schifter S., Bayer M., Chang S.S., et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998, 19:279-281.
    • (1998) Nat Genet , vol.19 , pp. 279-281
    • Geller, D.S.1    Rodriguez-Soriano, J.2    Vallo Boado, A.3    Schifter, S.4    Bayer, M.5    Chang, S.S.6
  • 16
    • 33646357245 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults
    • Geller D.S., Zhang J., Zennaro C.M., Rodriguez-Soriano J., Vallo Boado A., Rayniere S., et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006, 17:1429-1436.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 1429-1436
    • Geller, D.S.1    Zhang, J.2    Zennaro, C.M.3    Rodriguez-Soriano, J.4    Vallo Boado, A.5    Rayniere, S.6
  • 17
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • Simon D.B., Karet F.E., Hamdan J.M., DiPietro A., Sanjad S.A., Lifton R.P. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996, 13:183-188.
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.E.2    Hamdan, J.M.3    DiPietro, A.4    Sanjad, S.A.5    Lifton, R.P.6
  • 20
    • 8744242213 scopus 로고    scopus 로고
    • Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria
    • Fukuyama S., Hiramatsu M., Akagi M., Higa M., Ohta T. Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab 2004, 89:5847-5850.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 5847-5850
    • Fukuyama, S.1    Hiramatsu, M.2    Akagi, M.3    Higa, M.4    Ohta, T.5
  • 21
    • 0035189356 scopus 로고    scopus 로고
    • Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    • Birkenhager R., Otto E., Schurmann M.J., Vollmer M., Ruf E.M., Maier-Lutz I., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001, 29:310-314.
    • (2001) Nat Genet , vol.29 , pp. 310-314
    • Birkenhager, R.1    Otto, E.2    Schurmann, M.J.3    Vollmer, M.4    Ruf, E.M.5    Maier-Lutz, I.6
  • 23
    • 0028220464 scopus 로고
    • Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype
    • Pollak M.R., Chou Y.H., Marx S.J., Steinmann B., Cole D.E., Brandi M.L., et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994, 93:1108-1112.
    • (1994) J Clin Invest , vol.93 , pp. 1108-1112
    • Pollak, M.R.1    Chou, Y.H.2    Marx, S.J.3    Steinmann, B.4    Cole, D.E.5    Brandi, M.L.6
  • 24
    • 0037206034 scopus 로고    scopus 로고
    • Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
    • Watanabe S., Fukumoto S., Chang H., Takeuchi Y., Hasegawa Y., Okazaki R., et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002, 360:692-694.
    • (2002) Lancet , vol.360 , pp. 692-694
    • Watanabe, S.1    Fukumoto, S.2    Chang, H.3    Takeuchi, Y.4    Hasegawa, Y.5    Okazaki, R.6
  • 25
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman H.J., Graham J.B., Welt L.G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966, 79:221-235.
    • (1966) Trans Assoc Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 26
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • Simon D.B., Nelson-Williams C., Bia M.J., Ellison D., Karet F.E., Molina A.M., et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996, 12:24-30.
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3    Ellison, D.4    Karet, F.E.5    Molina, A.M.6
  • 27
    • 0035136314 scopus 로고    scopus 로고
    • Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life
    • Cruz D.N., Shaer A.J., Bia M.J., Lifton R.P., Simon D.B. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001, 59:710-717.
    • (2001) Kidney Int , vol.59 , pp. 710-717
    • Cruz, D.N.1    Shaer, A.J.2    Bia, M.J.3    Lifton, R.P.4    Simon, D.B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.